umls-concept:C0268419 | skos:definition | MSH: A rare autosomal recessive disorder resulting from the absence of CATALASE activity. Though usually asymptomatic, a syndrome of oral ulcerations and gangrene may be present.,NCI: A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections. | lld:umls |